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DSE dermatan sulfate epimerase [ Homo sapiens (human) ]

Gene ID: 29940, updated on 11-Jun-2021

Summary

Official Symbol
DSEprovided by HGNC
Official Full Name
dermatan sulfate epimeraseprovided by HGNC
Primary source
HGNC:HGNC:21144
See related
Ensembl:ENSG00000111817 MIM:605942
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DSEP; DSEPI; SART2; EDSMC2; SART-2; DS-epi1
Summary
The protein encoded by this gene is a tumor-rejection antigen. It is localized to the endoplasmic reticulum and functions to convert D-glucuronic acid to L-iduronic acid during the biosynthesis of dermatan sulfate. This antigen possesses tumor epitopes capable of inducing HLA-A24-restricted and tumor-specific cytotoxic T lymphocytes in cancer patients and may be useful for specific immunotherapy. Mutations in this gene cause inmusculocontractural Ehlers-Danlos syndrome. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 9, and a paralogous gene exists on chromosome 18. [provided by RefSeq, Apr 2016]
Expression
Ubiquitous expression in appendix (RPKM 7.0), fat (RPKM 5.7) and 25 other tissues See more
Orthologs
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Genomic context

See DSE in Genome Data Viewer
Location:
6q22.1
Exon count:
15
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (116254171..116444861)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (116575334..116766024)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene 5'-nucleotidase domain containing 1 Neighboring gene collagen type X alpha 1 chain Neighboring gene NIP7 pseudogene 3 Neighboring gene ribosomal protein S5 pseudogene Neighboring gene uncharacterized LOC112267965 Neighboring gene TSPY like 4 Neighboring gene RPS5 pseudogene 1 Neighboring gene TSPY like 1 Neighboring gene uncharacterized LOC100287467 Neighboring gene keratin 18 pseudogene 22 Neighboring gene chromobox 3 pseudogene 9

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus.
GeneReviews: Not available
Ehlers-Danlos syndrome, musculocontractural type 2
MedGen: C3809845 OMIM: 615539 GeneReviews: Not available
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Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables chondroitin-glucuronate 5-epimerase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables chondroitin-glucuronate 5-epimerase activity IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
located_in Golgi membrane TAS
Traceable Author Statement
more info
 
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
dermatan-sulfate epimerase
Names
DS epimerase
chondroitin-glucuronate 5-epimerase
squamous cell carcinoma antigen recognized by T-cells 2
NP_001074445.1
NP_001309866.1
NP_001309867.1
NP_001309868.1
NP_001309869.1
NP_001309870.1
NP_001309872.1
NP_001309873.1
NP_001361449.1
NP_001361450.1
NP_001361451.1
NP_037484.1
XP_016866284.1
XP_016866285.1
XP_016866286.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_033266.4 RefSeqGene

    Range
    121777..195691
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1184

mRNA and Protein(s)

  1. NM_001080976.3NP_001074445.1  dermatan-sulfate epimerase isoform a precursor

    See identical proteins and their annotated locations for NP_001074445.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3 and 4 all encode the same isoform (a).
    Source sequence(s)
    AL050331, Z84488
    Consensus CDS
    CCDS5107.1
    UniProtKB/Swiss-Prot
    Q9UL01
    Related
    ENSP00000404049.2, ENST00000452085.7
  2. NM_001322937.2NP_001309866.1  dermatan-sulfate epimerase isoform a precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3 and 4 all encode the same isoform (a).
    Source sequence(s)
    AL050331, Z84488
    Consensus CDS
    CCDS5107.1
    UniProtKB/Swiss-Prot
    Q9UL01
    UniProtKB/TrEMBL
    B7Z1T3
  3. NM_001322938.2NP_001309867.1  dermatan-sulfate epimerase isoform a precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3 and 4 all encode the same isoform (a).
    Source sequence(s)
    AL050331, Z84488
    Consensus CDS
    CCDS5107.1
    UniProtKB/Swiss-Prot
    Q9UL01
    UniProtKB/TrEMBL
    B7Z1T3
  4. NM_001322939.2NP_001309868.1  dermatan-sulfate epimerase isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) contains an alternate 5' exon and it thus differs in the 5' UTR and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (b) has a distinct N-terminus and is longer than isoform a.
    Source sequence(s)
    Z84488
    UniProtKB/Swiss-Prot
    Q9UL01
    UniProtKB/TrEMBL
    B7Z765
  5. NM_001322940.2NP_001309869.1  dermatan-sulfate epimerase isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) contains alternate 5' exon structure, and it thus differs in the 5' UTR and initiates translation from a downstream in-frame start codon, compared to variant 1. The encoded isoform (c) is shorter at the N-terminus, compared to isoform a. Both variants 6 and 7 encode isoform c.
    Source sequence(s)
    AL050331, Z84488
    UniProtKB/Swiss-Prot
    Q9UL01
    UniProtKB/TrEMBL
    B7Z1T3
  6. NM_001322941.2NP_001309870.1  dermatan-sulfate epimerase isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) uses an alternate splice site in a 5' exon, and it it thus differs in the 5' UTR and initiates translation from a downstream in-frame start codon, compared to variant 1. The encoded isoform (c) is shorter at the N-terminus, compared to isoform a. Both variants 6 and 7 encode isoform c.
    Source sequence(s)
    Z84488
    UniProtKB/Swiss-Prot
    Q9UL01
  7. NM_001322943.2NP_001309872.1  dermatan-sulfate epimerase isoform e precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9) lacks two alternate exons, resulting in a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (e) has a distinct C-terminus and is shorter than isoform a.
    Source sequence(s)
    Z84488
    Consensus CDS
    CCDS87433.1
    UniProtKB/Swiss-Prot
    Q9UL01
    Related
    ENSP00000495970.1, ENST00000646710.1
  8. NM_001322944.2NP_001309873.1  dermatan-sulfate epimerase isoform d precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) lacks an alternate exon, resulting in a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (d) has a distinct C-terminus and is shorter than isoform a.
    Source sequence(s)
    Z84488
    Consensus CDS
    CCDS87432.1
    UniProtKB/Swiss-Prot
    Q9UL01
    Related
    ENSP00000352567.3, ENST00000359564.3
  9. NM_001374520.1NP_001361449.1  dermatan-sulfate epimerase isoform f

    Status: REVIEWED

    Source sequence(s)
    AL050331, Z84488
  10. NM_001374521.1NP_001361450.1  dermatan-sulfate epimerase isoform g

    Status: REVIEWED

    Source sequence(s)
    AL050331, Z84488
  11. NM_001374522.1NP_001361451.1  dermatan-sulfate epimerase isoform h precursor

    Status: REVIEWED

    Source sequence(s)
    AL050331, Z84488
  12. NM_013352.4NP_037484.1  dermatan-sulfate epimerase isoform a precursor

    See identical proteins and their annotated locations for NP_037484.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform a. Variants 1, 2, 3 and 4 all encode the same isoform (a).
    Source sequence(s)
    AF098066, AL832471, AW630671, Z84488
    Consensus CDS
    CCDS5107.1
    UniProtKB/Swiss-Prot
    Q9UL01
    Related
    ENSP00000494147.2, ENST00000644252.3

RNA

  1. NR_136520.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10) does not share exon structure with variant 1, but it shares its 5' terminal exon with variants 3 and 6 and contains an alternate 3' terminal exon. This variant is represented as non-coding because it lacks the entire ORF found in variant 1.
    Source sequence(s)
    AK093256, AL050331, BX095954, BX489961
    Related
    ENST00000448740.2
  2. NR_136521.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (11) does not share exon structure with variant 1, but it shares its 5' terminal exon with variants 2, 12, 13 and 14, and contains alternate 3' exon structure that is shared with variants 12 and 13. This variant is represented as non-coding because it lacks the entire ORF found in variant 1.
    Source sequence(s)
    AW292369, BC043526, HY050986
    Related
    ENST00000645959.1
  3. NR_136522.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (12) does not share exon structure with variant 1, but it shares its 5' terminal exon with variants 2, 11, 13 and 14, and contains alternate 3' exon structure, some of which is shared with variants 11 and 13. This variant is represented as non-coding because it lacks the entire ORF found in variant 1.
    Source sequence(s)
    AW292369, BC043526, BX110619, DC333659, HY012067
  4. NR_136523.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (13) does not share exon structure with variant 1, but it shares its 5' terminal exon with variants 2, 11, 12 and 14, and contains alternate 3' exon structure, some of which is shared with variants 11 and 12. This variant is represented as non-coding because it lacks the entire ORF found in variant 1.
    Source sequence(s)
    AW292369, BC043526, DC333659
    Related
    ENST00000449314.5
  5. NR_136524.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (14) contains an alternate 5' terminal exon, uses an alternate splice site in an internal exon and lacks an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AL050331, Z84488

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    116254171..116444861
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017010795.1XP_016866284.1  dermatan-sulfate epimerase isoform X1

    UniProtKB/TrEMBL
    B7Z765
  2. XM_017010797.1XP_016866286.1  dermatan-sulfate epimerase isoform X3

  3. XM_017010796.1XP_016866285.1  dermatan-sulfate epimerase isoform X2

    UniProtKB/Swiss-Prot
    Q9UL01
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